关键词: 先天性遗传代谢性疾病, 死亡, 氨基酸, 脂肪酸, 串联质谱

Abstract: Objective To explore the relationships between congenital genetic metabolic disease with unknown cause death of 0~2 years old children and tandem mass spectrometry technology feasibility of screening for congenital genetic metabolic diseases. Methods The level of 11 kinds of amino acid metabolism and 13 kinds of fatty acid indicators were detected in 170 cases of 0~2 years old deaths children with tandem mass spectrometry,170 patients specimens of Beijing area from 2011 to 2012 were divided into 0~3,4~6,7~12,13~24 months groups,and analysed the relationship between birth weight,gestational,amino acid metabolism,fatty acid metabolism and the organic acid metabolism disorder in each group. Results In a total of 170 cases,children with amino acid metabolism abnormalities were 5 cases,fatty acid metabolism abnormalities were 16 cases,accounting for 9.4% of deaths.108 cases died in 0~3 months group with 9 cases of abnormal,accounting for 56.25% of total abnormalities (9/16);26 cases died in 4~6 group with abnormal in 4 cases,accounting for 25.0% of the total number of anomalies (4/16);26 cases died in 7~9 group with 3 cases of abnormal,accounting for 18.75% of the total number of anomalies (3/16);10 patients died in 13~24 months group and found no abnormalities. Conclusion Congenital genetic metabolic diseases is the causes of children death,rapid,sensitive and specific technology of tandem mass spectrometry is an effective method to early assess products of congenital abnormal genetic metabolic.

Key words: congenital genetic metabolic diseases, death, amino acids, fatty acids, tandem mass spectrometry